E34.5

Clinical Causes: Genetic mutation in the AR gene responsible for androgen receptors Inheritance pattern is typically X-linked recessive, meaning the gene responsible is located on the X chromosome Inheritances from carrier mothers who carry the mutation but do not show symptoms No environmental factors have been conclusively linked to the development of AIS

Key Symptoms: Undescended testes or absence of testes in the scrotum Vaginal opening may be small or absent Swelling of the labia may resemble scrotal tissue Absence of typical male secondary sexual characteristics such as beard growth, voice deepening, and pubic hair Developed breast tissue during puberty due to estrogen influence Short or absent uterine and fallopian tube formation, leading to infertility Normal or nearly normal external female genitalia despite XY chromosomes In some cases, individuals may present with ambiguous genitalia at birth

Diagnosis Path: Diagnosis of AIS generally involves a combination of physical examinations, medical history, and laboratory tests. These include: - Karyotype analysis to identify XY chromosome pattern - Hormone level testing to assess levels of testosterone, luteinizing hormone (LH), and follicle-stimulating hormone (FSH) - Pelvic ultrasound or MRI to evaluate internal reproductive organs - Genetic testing to identify mutations in the AR gene - Occasionally, biopsies or exploratory surgery may be conducted to assess internal structures Diagnosis typically occurs during adolescence or adulthood when primary or secondary sexual characteristics do not develop as expected or when infertility is investigated.

Treatment Protocols: While there is no cure for AIS, management focuses on addressing associated medical and psychological needs. Treatment options can include: - Hormone replacement therapy (HRT) to develop secondary sexual characteristics or maintain bone health - Surgical intervention to remove undescended testes if necessary, due to potential cancer risk - Psychological counseling and support to address social, emotional, and reproductive concerns - Education and support for individuals and families to understand the condition - Fertility options are limited, but adoption or assisted reproductive technologies may be explored It is important that treatment plans are tailored to each individual's needs and that management is coordinated by a team of specialists experienced in disorders of sexual development.